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Trait

Restrictive cardiomyopathy

Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.

HPO HP:0001723

Summary

Body system
Abnormality of the cardiovascular system

25 condition reports read genes linked to this trait

Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.

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24 genes linked to Restrictive cardiomyopathy

Changes in these genes cause rare conditions in which Restrictive cardiomyopathy is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
KIF20Akinesin family member 20AAlwaysIn 1 condition
MCM10minichromosome maintenance 10 replication initiation factorAlwaysIn 1 condition
TNNT2troponin T2, cardiac typeAlwaysIn 1 condition
BAG3BAG cochaperone 3Often (30–79%)In 1 condition
CENPEcentromere protein EOften (30–79%)In 1 condition
TTRtransthyretinOften (30–79%)In 1 condition
ABCC6ATP binding cassette subfamily C member 6Sometimes (5–29%)In 2 conditions
ACTC1actin alpha cardiac muscle 1Sometimes (5–29%)In 1 condition
ANK1ankyrin 1Sometimes (5–29%)In 1 condition
DESdesminSometimes (5–29%)In 1 condition
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1Sometimes (5–29%)In 1 condition
EPB42erythrocyte membrane protein band 4.2Sometimes (5–29%)In 1 condition
MYL2myosin light chain 2Sometimes (5–29%)In 1 condition
PIGTphosphatidylinositol glycan anchor biosynthesis class TSometimes (5–29%)In 2 conditions
SLC4A1solute carrier family 4 member 1 (Diego blood group)Sometimes (5–29%)In 1 condition
SPTA1spectrin alpha, erythrocytic 1Sometimes (5–29%)In 1 condition
SPTBspectrin beta, erythrocyticSometimes (5–29%)In 1 condition
TRIM63tripartite motif containing 63Sometimes (5–29%)In 1 condition
FLNAfilamin ARarely (1–4%)In 1 condition
XYLT1xylosyltransferase 1Rarely (1–4%)In 1 condition
XYLT2xylosyltransferase 2Rarely (1–4%)In 1 condition
MYL3myosin light chain 3Not recordedIn 1 condition
PDGFRAplatelet derived growth factor receptor alphaNot recordedIn 1 condition
TNNI3troponin I3, cardiac typeNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Disease of the heart muscle

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.19-9814e911.

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